Author Wilichowski, Ekkehard

1 to 18 of 18 Items
  • 2001 | Journal Article | 
    ​ ​Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome​
    Čačić, M.; Wilichowski, E.; Mejaški-Bošnjak, V.; Fumić, K.; Lujić, L.; Marusić, B. & Marina, D. et al.​ (2001) 
    Journal of Child Neurology, 16(8) pp. 616​-619​.​ DOI: https://doi.org/10.1177/088307380101600818 
    ​Details  DOI 
  • 2006 | Conference Abstract
    ​ ​Clinical and morphological presentation of 'Rigid spine muscular dystrophy' caused by Selenoprotein N gene mutation​
    Wilichowski, E.; Hobbiebrunken, E.; Schulz-Schaeffer, W. J.; Goebel, H. H.; Ferreiro, A. & Boennemann, C.​ (2006)
    Neuromuscular Disorders, 16 pp. S108​-S109. ​11th International Congress on Neuromuscular Diseases​, Istanbul, TURKEY.
    Oxford​: Pergamon-elsevier Science Ltd.
    ​Details  WoS 
  • 2009 | Journal Article
    ​ ​Functional Consequences of Mitochondrial DNA Deletions in Human Skin Fibroblasts Increased Contractile Strength in Collagen Lattices Is Due to Oxidative Stress-Induced Lysyl Oxidase Activity​
    Majora, M.; Wittkampf, T.; Schuermann, B.; Schneider, M.; Franke, S.; Grether-Beck, S. & Wilichowski, E. et al.​ (2009) 
    American Journal Of Pathology, 175(3) pp. 1019​-1029​.​ DOI: https://doi.org/10.2353/ajpath.2009.080832 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | 
    ​ ​Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome)​
    Brinckmann, A.; Weiss, C.; Wilbert, F.; von Moers, A.; Zwirner, A.; Stoltenburg-Didinger, G. & Wilichowski, E. et al.​ (2010) 
    PLoS ONE, 5(10) art. e13513​.​ DOI: https://doi.org/10.1371/journal.pone.0013513 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article
    ​ ​Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial​
    Kirschner, J.; Schessl, J.; Schara, U.; Reitter, B.; Stettner, G. M.; Hobbiebrunken, E. & Wilichowski, E. et al.​ (2010) 
    The Lancet Neurology, 9(11) pp. 1053​-1059​.​ DOI: https://doi.org/10.1016/S1474-4422(10)70196-4 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article
    ​ ​Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome​
    Stettner, G. M.; Viscomi, C.; Zeviani, M.; Wilichowski, E. & Dutschmann, M.​ (2011) 
    Mitochondrion, 11(3) pp. 413​-420​.​ DOI: https://doi.org/10.1016/j.mito.2010.12.011 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article
    ​ ​Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing​
    Haack, T. B.; Haberberger, B.; Frisch, E.-M.; Wieland, T.; Iuso, A.; Gorza, M. & Strecker, V. et al.​ (2012) 
    Journal of Medical Genetics, 49(4) pp. 277​-283​.​ DOI: https://doi.org/10.1136/jmedgenet-2012-100846 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Conference Abstract
    ​ ​Autosomal-recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect​
    Wilichowski, E.; Abicht, A.; Mayr, H.; Horvath, R.; Sperl, W. & Gärtner, J. ​ (2013)
    Mitochondrion, 13(6) pp. 921​-922. 
    Oxford​: Elsevier Sci Ltd. DOI: https://doi.org/10.1016/j.mito.2013.07.062 
    ​Details  DOI  WoS 
  • 2014 | Journal Article
    ​ ​Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome​
    Dieks, J.-K.; Baumer, A.; Wilichowski, E.; Rauch, A. & Sigler, M.​ (2014) 
    European Journal of Pediatrics, 173(9) pp. 1253​-1256​.​ DOI: https://doi.org/10.1007/s00431-014-2368-5 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article
    ​ ​Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening​
    Haack, T. B.; Gorza, M.; Danhauser, K.; Mayr, J. A.; Haberberger, B.; Wieland, T. & Kremer, L. et al.​ (2014) 
    Molecular Genetics and Metabolism, 111(3) pp. 342​-352​.​ DOI: https://doi.org/10.1016/j.ymgme.2013.12.010 
    ​Details  DOI  PMID  PMC  WoS 
  • 2014 | Journal Article
    ​ ​Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies​
    Marttila, M.; Lehtokari, V.-L.; Marston, S.; Nyman, T. A.; Barnerias, C.; Beggs, A. H. & Bertini, E. et al.​ (2014) 
    Human Mutation, 35(7) pp. 779​-790​.​ DOI: https://doi.org/10.1002/humu.22554 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article
    ​ ​Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations​
    Huemer, M.; Karall, D.; Schossig, A.; Abdenur, J. E.; Al Jasmi, F.; Biagosch, C. & Distelmaier, F. et al.​ (2015) 
    Journal of Inherited Metabolic Disease, 38(5) pp. 905​-914​.​ DOI: https://doi.org/10.1007/s10545-015-9836-6 
    ​Details  DOI  PMID  PMC  WoS 
  • 2017 | Journal Article
    ​ ​Developing standardized corticosteroid treatment for Duchenne muscular dystrophy​
    Guglieri, M.; Bushby, K.; McDermott, M. P.; Hart, K. A.; Tawil, R.; Martens, W. B. & Herr, B. E. et al.​ (2017) 
    Contemporary Clinical Trials, 58 pp. 34​-39​.​ DOI: https://doi.org/10.1016/j.cct.2017.04.008 
    ​Details  DOI  PMID  PMC  WoS 
  • 2018 | Journal Article | 
    ​ ​A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial​
    Crow, R. A; Hart, K. A; McDermott, M. P; Tawil, R.; Martens, W. B; Herr, B. E & McColl, E. et al.​ (2018) 
    Trials, 19(1) art. 291​.​ DOI: https://doi.org/10.1186/s13063-018-2645-0 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Intrathekale Nursinersen-Therapie bei Kindern mit Spinaler Muskelatrophie und Wirbelsäulendeformitäten​
    Lorenz, H. M; Kühnle, I.; Edler, J.; Hobbiebrunken, E.; Wilichowski, E.; Tsaknakis, K. & Wilken, B. et al.​ (2018) 
    Klinische Pädiatrie, 230(4) pp. 231​-233​.​ DOI: https://doi.org/10.1055/s-0044-100621 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | 
    ​ ​Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial​
    Dittrich, S.; Graf, E.; Trollmann, R.; Neudorf, U.; Schara, U.; Heilmann, A. & von der Hagen, M. et al.​ (2019) 
    Orphanet Journal of Rare Diseases, 14(1) art. 105​.​ DOI: https://doi.org/10.1186/s13023-019-1066-9 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy​
    Reinert, M.-C.; Pacheu-Grau, D.; Catarino, C. B.; Klopstock, T.; Ohlenbusch, A.; Schittkowski, M. & Wilichowski, E. et al.​ (2021) 
    Orphanet Journal of Rare Diseases, 16(1) art. 64​.​ DOI: https://doi.org/10.1186/s13023-021-01690-y 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | 
    ​ ​Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study​
    Pechmann, A.; Behrens, M.; Dörnbrack, K.; Tassoni, A.; Wenzel, F.; Stein, S. & Vogt, S. et al.​ (2022) 
    Orphanet Journal of Rare Diseases, 17(1) art. 384​.​ DOI: https://doi.org/10.1186/s13023-022-02547-8 
    ​Details  DOI 

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